TY  - JOUR
AU  - Arhip, Loredana
AU  - Brox-Torrecilla, Noemí
AU  - Romero, Inmaculada
AU  - Motilla, Marta
AU  - Serrano Moreno, Clara
AU  - Miguélez, María
AU  - Cuerda Compes, María Cristina
PY  - 2024
DO  - 10.1186/s13023-024-03021-3
SN  - 1750-1172
UR  - https://hdl.handle.net/20.500.14352/124249
T2  - Orphanet Journal of Rare Diseases
AB  - IntroductionCombined methylmalonic acidemia and homocystinuria, cblC type is an inborn error of intracellular cobalamin metabolism and the most common one. The age of onset ranges from prenatal to adult. The disease is characterised by an elevation of...
LA  - eng
PB  - Springer Nature
KW  - Methylmalonic acidemia and homocystinuria
KW  - cblC type
KW  - Late-onset
KW  - MMACHC protein
TI  - Late-onset methylmalonic acidemia and homocysteinemia (cblC disease): systematic review.
TY  - journal article
VL  - 19
ER  -